Variant report

Variant	esv3451036
Chromosome Location	chr12:116983919-116985817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:116983737-116984016	K562	blood:	n/a	n/a
2	BCL11A	chr12:116985778-116986081	GM12878	blood:	n/a	n/a
3	BCL11A	chr12:116985792-116986079	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:116985492-116986143	K562	blood:	n/a	n/a
5	CCNT2	chr12:116983685-116984146	K562	blood:	n/a	chr12:116984007-116984016 chr12:116984015-116984024
6	CTCF	chr12:116985800-116985950	GM12873	blood:	n/a	n/a
7	EBF1	chr12:116985775-116986084	GM12878	blood:	n/a	n/a
8	EGR1	chr12:116983899-116984139	K562	blood:	n/a	chr12:116984005-116984015 chr12:116984001-116984016 chr12:116984016-116984029 chr12:116984002-116984015 chr12:116984002-116984015 chr12:116984007-116984017 chr12:116984002-116984015 chr12:116983998-116984020
9	EGR1	chr12:116983822-116984144	K562	blood:	n/a	chr12:116984005-116984015 chr12:116984001-116984016 chr12:116984016-116984029 chr12:116984002-116984015 chr12:116984002-116984015 chr12:116984007-116984017 chr12:116984002-116984015 chr12:116983998-116984020
10	EP300	chr12:116985720-116986082	K562	blood:	n/a	chr12:116985752-116985766 chr12:116985740-116985754 chr12:116985742-116985756
11	EP300	chr12:116985701-116986210	GM12878	blood:	n/a	chr12:116985752-116985766 chr12:116985740-116985754 chr12:116985742-116985756
12	EP300	chr12:116983724-116984028	K562	blood:	n/a	n/a
13	FOXM1	chr12:116985646-116986234	GM12878	blood:	n/a	n/a
14	HDAC2	chr12:116983844-116984011	K562	blood:	n/a	n/a
15	HMGN3	chr12:116983732-116983974	K562	blood:	n/a	n/a
16	IKZF1	chr12:116985594-116986298	GM12878	blood:	n/a	n/a
17	JUND	chr12:116983727-116984061	K562	blood:	n/a	n/a
18	JUND	chr12:116985434-116986113	K562	blood:	n/a	n/a
19	MAFK	chr12:116985657-116986035	K562	blood:	n/a	n/a
20	MAFK	chr12:116983778-116983980	K562	blood:	n/a	n/a
21	MAX	chr12:116985281-116985555	K562	blood:	n/a	n/a
22	MAX	chr12:116985384-116985538	K562	blood:	n/a	n/a
23	MAX	chr12:116985683-116986477	NB4	blood:	n/a	n/a
24	MAX	chr12:116985311-116986027	K562	blood:	n/a	n/a
25	MAZ	chr12:116985432-116986083	K562	blood:	n/a	n/a
26	MAZ	chr12:116983721-116984178	K562	blood:	n/a	chr12:116984005-116984015
27	MXI1	chr12:116985702-116985755	GM12878	blood:	n/a	n/a
28	MYC	chr12:116985596-116986320	NB4	blood:	n/a	n/a
29	MYC	chr12:116985344-116985626	K562	blood:	n/a	n/a
30	NFATC1	chr12:116985654-116986196	GM12878	blood:	n/a	n/a
31	NFIC	chr12:116985581-116986289	GM12878	blood:	n/a	n/a
32	PAX5	chr12:116985642-116986193	GM12878	blood:	n/a	n/a
33	PBX3	chr12:116985760-116985967	GM12878	blood:	n/a	n/a
34	PML	chr12:116985669-116986292	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:116985709-116986249	GM12892	blood:	n/a	n/a
36	POLR2A	chr12:116984768-116984915	K562	blood:	n/a	n/a
37	POLR2A	chr12:116985759-116986607	GM12892	blood:	n/a	n/a
38	POLR2A	chr12:116984428-116984440	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:116985763-116986323	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr12:116985716-116986252	HL-60	blood:	n/a	n/a
41	POLR2A	chr12:116985620-116986670	GM12892	blood:	n/a	n/a
42	POLR2A	chr12:116985583-116986285	HL-60	blood:	n/a	n/a
43	RCOR1	chr12:116985726-116986110	K562	blood:	n/a	n/a
44	RCOR1	chr12:116985799-116986124	K562	blood:	n/a	n/a
45	RCOR1	chr12:116983714-116984252	K562	blood:	n/a	n/a
46	RELA	chr12:116985733-116986487	GM19099	blood:	n/a	n/a
47	REST	chr12:116985778-116986221	PFSK-1	brain:	n/a	chr12:116985984-116985991
48	REST	chr12:116985806-116986258	PFSK-1	brain:	n/a	chr12:116985984-116985991
49	RUNX3	chr12:116985661-116986372	GM12878	blood:	n/a	n/a
50	RUNX3	chr12:116985697-116986232	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:116976624..116978627-chr12:116982382..116983946,2	MCF-7	breast:
2	chr12:116970149..116972924-chr12:116980569..116984138,3	K562	blood:
3	chr12:116967310..116968928-chr12:116982410..116984737,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP1LC3B2-1	chr12:116985551-116986093	XLOC_009898

Variant related genes	Relation type
ENSG00000258102	TF binding region
ENSG00000196668	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568328640	chr12:116983942-116983943	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7976256	chr12:116983996-116983997	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557232425	chr12:116984011-116984012	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577163267	chr12:116984037-116984038	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183817666	chr12:116984112-116984113	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187012582	chr12:116984126-116984127	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531436086	chr12:116984139-116984140	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191858560	chr12:116984141-116984142	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562130139	chr12:116984162-116984163	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149891971	chr12:116984166-116984167	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543597146	chr12:116984193-116984194	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145835972	chr12:116984199-116984200	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548692251	chr12:116984336-116984337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148980804	chr12:116984347-116984348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183583075	chr12:116984368-116984369	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559117506	chr12:116984373-116984374	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528052387	chr12:116984412-116984413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189532680	chr12:116984503-116984504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537079197	chr12:116984609-116984610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12820089	chr12:116984612-116984613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11068064	chr12:116984662-116984663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139970707	chr12:116984664-116984665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12826097	chr12:116984682-116984683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57876349	chr12:116984684-116984685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55986719	chr12:116984722-116984723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60198495	chr12:116984724-116984725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7133694	chr12:116984730-116984731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7133696	chr12:116984736-116984737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7300046	chr12:116984740-116984741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7133701	chr12:116984750-116984751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7300050	chr12:116984752-116984753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71469767	chr12:116984757-116984758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7300054	chr12:116984758-116984759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574094836	chr12:116984768-116984769	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201847778	chr12:116984769-116984770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368056615	chr12:116984770-116984771	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs377538426	chr12:116984771-116984772	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550802079	chr12:116984782-116984783	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs71455166	chr12:116984791-116984792	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs115509776	chr12:116984795-116984796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs113372660	chr12:116984831-116984832	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539771011	chr12:116984910-116984911	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553602899	chr12:116985032-116985033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573172289	chr12:116985033-116985034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112230122	chr12:116985048-116985049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7300418	chr12:116985064-116985065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143835059	chr12:116985121-116985122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572274669	chr12:116985148-116985149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544712412	chr12:116985190-116985191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563500449	chr12:116985209-116985210	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
2	chr12:116975600-116984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:116977600-116985400	Weak transcription	Placenta	Placenta
4	chr12:116977800-116984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
7	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
8	chr12:116978400-116984200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:116978400-116985000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:116980200-116984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:116980600-116984200	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:116980600-116985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:116980800-116985800	Weak transcription	Right Ventricle	heart
15	chr12:116980800-116985800	Weak transcription	NH-A	brain
16	chr12:116981000-116985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:116981000-116985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:116981000-116985800	Weak transcription	Fetal Kidney	kidney
19	chr12:116981200-116985000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:116981200-116985400	Weak transcription	Fetal Thymus	thymus
21	chr12:116981600-116984800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:116981600-116986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:116982000-116986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:116982200-116984200	Enhancers	Fetal Stomach	stomach
25	chr12:116982400-116985200	Weak transcription	Colonic Mucosa	Colon
26	chr12:116982400-116986000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:116982800-116985800	Weak transcription	Fetal Lung	lung
28	chr12:116983200-116984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:116983200-116984400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:116983200-116985600	Weak transcription	Adipose Nuclei	Adipose
31	chr12:116983200-116986800	Enhancers	K562	blood
32	chr12:116983400-116984000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:116983400-116984200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:116983400-116984200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:116983400-116984200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:116983400-116985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:116983600-116984000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:116983600-116984200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:116983600-116984200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:116983600-116985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:116983600-116985800	Weak transcription	Ovary	ovary
42	chr12:116983600-116986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:116983800-116984000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:116983800-116984200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:116983800-116985200	Weak transcription	GM12878-XiMat	blood
46	chr12:116983800-116985600	Weak transcription	Fetal Brain Female	brain
47	chr12:116983800-116986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:116984000-116984200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:116984000-116984200	Enhancers	Colon Smooth Muscle	Colon
50	chr12:116984000-116985600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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